3 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms ... delayed puberty -> Infertility ... sleep apnea, cor pulmonale ... pathophysiology #peds ... #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... endocrinology #peds ... #pediatrics
Hypertensive Disorders of Pregnancy
Chronic Hypertension:
 • Guidelines as SBP ≥130 or DBP ≥ 90 mmHg
 •
doubling of Cr), pulmonary ... patients • HELLP: Syndrome ... ↑ in anti HTN meds ... so have high clinical ... htn #obstetrics #cardiology